Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199476117
rs199476117
COX3 ; ND3 ; ND4 ; ND4L
0.925 0.120 MT 10158 missense variant T/C snv
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
0.800 1.000 3 2001 2010
dbSNP: rs267606890
rs267606890
COX3 ; ND3 ; ND4 ; ND4L
0.925 0.120 MT 10191 missense variant T/C snv
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
0.800 1.000 3 2001 2010
dbSNP: rs267606891
rs267606891
COX3 ; ND3 ; ND4 ; ND4L
0.882 0.200 MT 10197 missense variant G/A snv
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
0.800 1.000 3 2001 2010